G16E (p.Gly16Glu) variant of PLAT (P00750)
G16E (p.Gly16Glu) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G16E (p.Gly16Glu) variant details
- p.Gly16Glu
- ExAC rs780605910
- TOPMed rs780605910
- gnomAD rs780605910
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.54
- CADD 17.00
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available